Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024675.4

p.D234H

c.700G>C

Surrounding Variants

2 papers

NM_024675.4

p.D234N

c.700G>A

10 papers

NM_024675.4

p.V233fs

c.697_698fs

1 paper

NM_024675.4

p.V233delFs

c.697_698delAC

1 paper

NM_024675.4

p.D234V

c.701A>T

1 paper

NM_024675.4

p.D234G

c.701A>G

1 paper

NM_024675.4

p.D234delFs

c.700delC

2 papers

NM_024675.4

p.G232_V233del2

c.694_698del6

18 papers

NM_024675.4

p.V233delFs

c.697delC

4 papers

NM_024675.4

p.V233fs

c.697_698fs

2 papers

NM_024675.4

p.G232insFs

c.696dupT

1 paper

NM_024675.4

p.V233_D234insT

c.697_701ins3

2 papers

NM_024675.4

p.T235S

c.703A>T